About

This blog is about porphyria. I will share what I’ve learned about dealing with this problem. For a long time, I thought that I had AIP (acute intermittent porphyria); however, since I was tested positive to 3 porphyrins, I might have variegate (I do have some sun sensitivity). What I share may or may not apply to one or more of the other six types.

44 Responses to About

Thank you for sharing your story. I’ve recently been diagnosed after years of unexplainable problems. I was lucky that my doctor was exasperated with trying to treat me and did test for porphyria. After 2 months, I’m relieved but so depressed that I can’t get a handle on what works for me. You had some great tips I will try. Again, thank you. We seem to be paralleled in our symptoms. Please continue to blog for all of us that suffer from this strange disease.

Well, we spend a lot of time trying to figure out how to stop attacks…and, we have been aware of porphyria for years. You are just 2 months into it. You really need one or two other people who are involved with what you are doing. The first thing my wife does is look at my eyes to figure out what state I am in; it is real easy to slowly spiral down and not realize it is time to react. Have you identified which food/meds cause attacks, which are irritants, and which are safe? Also, do you know which kind of porphyria you have? I have AIP and that is what I write from. Though I can get a bad reaction from too much sun, I can get a mild sunburn without an attack…not like the poor folks with cutaneous types of porphyria.

I have spent numerous hours attempting to research AIP.
Im currently on the verge of turning 25. For most of my life, especially after my first menustral period, I would suffer from severe abdominal pain. I figured it came from the time of the month so I didnt see any real threat. I also began to experience severe back pain. Doctor’s figured it could be the cause of kidney stones. Eventually, i began to experience serious anxiety and a bit of depression. The anxiety got so bad that I would have “attacks” at work and also during college courses I was taking at my local University. I began to get paranoid at the fact that I could have an attack so as a result, I began to isolate myself from social situations.
On August of this year, I started my first job after I gradutated college. Walking to my office to get my things and clock out, I felt a sharp pain in my abdomin. I was so stunned that it was painful to even walk. The pain would radiate and travel to my back. The following day I was admitted into the hospital. All of my xrays came back ok but I did have an ovarian cysts in my right ovary about the size of a quarter. Prior to my surgery, a specialist came in and spoke to me about my symptoms. He advised me to take a 24 hour urine analysis test. The following day, I was on my way back home for some rest and relaxation.
I finally got my test results back and my Porphyrian levels were really high. It was then that I was diagnosed with AIP.
Im still new to all of this seeing as I was diagnosed about 2 months ago.

Tomorrow I will go and see a neurlogist in reference to my diagnosis. Maybe he can finally tell me why it’s always raining in my head..

Thank you for posting up these blogs. It has been very helpful to me especially since the last 4 doctors I went to had no idea what Porphyria is. Its very confusing/frustrating knowing you have something thats making you sick. We turn to doctors for answers but most times, we get the short end of the stick.

Porphyria is really complicated. Besides research, on the internet, you really have to keep track of everything you eat/drink; keeping a food log is very helpful. The hardest part is finding a baseline of what is safe; some foods are absolute triggers & some are just irritants (from what we have determined). And, while you are watching all that, you might have a reaction to air fresheners or solvents & think it is something you ate. Or, it could be stress causing the attack. Or, as you have noted, hormones.

I have mixed emotions about doctors. There is no way that they can be rigorously versed in porphyria; they don’t have enough patients to put that much time into it. The ones that really peeve me are those who act like non-doctors are idiots & we should all just blindly do what they say, when they have no clue.

Besides avoiding food / medicine triggers, stress, etc & adding glucose, you might also consider adding magnesium. I’ve found this help me; also, Fleur made the comment that it helps her too (http://www.myporphyria.com/urine/). I do not like the flavor of Calm (magnesium citrate) or Epsom salts (magnesium sulfate); but, I’ve found that the flavor is manageable, when they are mixed. I use about a 1/2 teaspoon once a day; more than that will clean you out. Of course, when I have a painful attack, I will use a full teaspoon (along with plenty of glucose & some pain killers).

I think your blog is ridiculously great and an inspiration. I am 29 yrs old and have not been diagnosed with porphyria (yet?). I have always had digestion problems since puberty and had a lot of sleepless nights with stomach pain, diarrhea, constipation and anal issues.

I’ve been diagnosed with irritable bowel, chronic gastritis, etc., a lot of things which always seemed to me a diagnosis which made doctors more comfortable than saying “I don’t know.” When I turned twenty, I had a bad episode of diarrhea, nausea, my BP and pulse went up, I went to the ER and everything calmed after some hours and electrolyte infusions.

Ever since I had worse and better times with my digestion but I’ve never faced any particular health issues besides that. 2 yrs ago I caught a virus/infection or whatever (CMV has been confirmed, doctors think maybe Lyme disease because I had a tick bite and 2 indecisive tests). Over the last two years I went to a myriad of health issues in addition to my digestive problems. Ridiculous leg pain (I was twice for an ultrasound because of suspected blood clots), back pain (doctors thought of meningitis or encephalitis), cold fingers & toes, wildly behaving BP and pulse, breathing difficulties, acid reflux and temporary flushing (particularly red ears). Also I get headaches in the sun immediately. A day after consumption of alcohol I will get first swollen feet, then amazing calf pain. The same happens after flying. My question to your or your followers is mainly: did you ever have any issues with flushing or hot red ears?

My doctors are currently testing for porphyrias, carcinoid syndrome, other endocrine tumors, or neoplasm by unknown cancer. Autoimmune conditions have been excluded repeatedly as well as lymphatic and blood cancers.

Because I have darker urine in the morning, get sick if not eating, get pains after alcohol and problems in the sun as well as all those digestion probs a cardiologist suggested porphyria which I’m now tested for. Also I have figured out that I react badly to bananas, grapes, red wine, pastries and particular shrimps and lobster.

Two brief further points:

1) I am currently about to finish my PhD (not in a medical field but a mathematical one) at a top 5 university in the US, meaning I have amazing access to doctors, research, resources, etc… If I turn out to have porphyria I will definitely frequently stop by your blog and try to contribute with helpful input for others.

2) As we all know tha main problem is the scarcity of porphyriacs. Otherwise significant money contributions would have led research much farther. In my personal opinion I don’t think that two patients with the exactly same genetic problems do react differently to foods. However, I think, since everybody has an idiosyncratic history …

… and subjective bowel problems with food sensitivities, etc. However, I am convinced there can be a basic agreed upon food list which is bad for porhyriacs if there is enough research and then on top of that everybody could add personal experiences.

Again, my question to you and followers would be: Did you ever have any problems with flushing, red hot ears, temporary bulging veins (not varicose veins) in the legs and/or cold fingers/toes?

Congratulations on your Ph.D! I only have an EE; so, I really appreciate your level of commitment!

Your question about “flushing, red hot ears, temporary bulging veins (not varicose veins) in the legs and/or cold fingers/toes?”…I have not experienced that, nor have any of my family members (that I am aware of). With that in mind, I have not keyed in on those symptoms while researching or interacting with other sufferers. So, all I can share is from a very limited sample size.

Common food list – I agree, with caveats. For instance, most of my food triggers are common to my family members, except for strawberries. I am the only person in my family that is allergic to strawberries; but, they aren’t a porphyria trigger, other than just aggravating the situation like any other irritant would, to a porphyriac. So, with that in mind, I work very hard to note the foods that are porphyria triggers & irritants to me, and to those who have made comments to this blog. Again, with all that said, these are just guidelines…not everyone has my genetic makeup, nor the same mix of porphyrins. You may want to read my diatribe on “Known Triggers & Known Good” http://www.myporphyria.com/2014/02/09/known-triggers-known-good/

I suspect that you will do rigorous research on this and, if I may speak for other sufferers, we are looking forward to your results.

I hope that you find the source of your problems. Please note, that testing for porphyria is complicated by false negatives. Until you get a positive diagnosis, you may want to behave as if you do have porphyria; most of the guidelines would be very helpful to the general populace, anyway.

Wondering if you received a diagnosis yet? …… Also wondering about the Lyme connection. I graduated with an MD 4 years ago… I have lyme. It’s a neurological nightmare. I am planning on pursuing interventional pain management. I frequent blogs to better understand what those who suffer from painful conditions experience.

Nope! I’ve had a negative test and an indecisive one for porphyria. Besides that I ruled out any possibility of endocrine cancer. All my markers are practically 0. Lately I’ve had high BP and kidney as well as liver pain with slightly elevated enzymes but still no clue of a diagnosis. I’ve been diagnosed with a parasite, but a rather harmless one.
I just had blood tests for Wilson’s, iron overload, etc… let’s see. The funny thing is that Magnesium seems to help, even pretty rapidly.

However, after eating a glucose tablet I was horrible as well as after drinking Gatorade. Both made my leg veins pop out and gave me slight breathing troubles.

Regarding Lyme I’m very skeptical. I have done a lot of research and besides money hungry doctors and labs I didn’t find a lot. When you say you have Lyme does that mean you had a tick bite and tested Igg positive by a respectable lab?

By the way my other symptom nobody can explain is slight hypercalcemia.

Thomas I have Poprhyria and I also have Elhers Danlos syndrome. That causes your veins to be real weird and even painful as you describe. Though when looking it up you will find it says it a joint disease it is systematic and will affect your whole body and your blood flow. It can cause blood pooling. Are you double jointed by any chance even if only slightly?

Maybe it’s not all so much what we are eating, but rather what we aren’t – missing nutrients, out of balance?? I feel so much better since I started adding nutritional yeast (just a quarter to half teaspoon) to my soups and baked goods for the B vitamins, so important for enzymes BUT my porphyria hasn’t been definitely confirmed.

I constantly worry about lack of nutrients. The hematologist that I see has checked my food log & is happy with it; but, I still wonder. I do know that some foods are absolute triggers (painful experience) & that some are irritants. But, I have no doubt that I’ve put some foods on my bad list, that are ok. The risk is just so great, that we err on the side of safety.

I am sure, because of our upset guts, there is a problem with lack of nutrients. Before an attack, I get particularly hungry, seek out special foods and in the middle of an attavk, solud foods are simply not digested. I suspect it boils down to nit rnough nutruents for the food reach tge rightnplaces, hence the hunger. More research needed of course.

It’s kind of like cancer oh you just have a little time for the cancer it’s not big enough either I have cancer or I don’t have cancer either I have porphyria or I don’t have porphyria, if it shows up it shows up that’s just my opinion. I agree with you 100%.

Thanks for your blog posts! I am 19 and for five years, I have been suffering from a very painful, blistering rash after sun exposure and abdominal pain. I have been down a long road of inconclusive tests and skin biopsies (8 to be exact). I now avoid sunlight as much as possible but still have bad stomach “attacks” as I call them. My symptoms are on par with porphyria, maybe Variegate or Hereditary Coproporphyria. I just got a 24 hour urine and fecal test, but we didn’t have confidence in the people at the lab. They had never heard of porphyria. My test results came back within the normal range. We don’t know where to go from here though. I want to get tested by a lab that knows what they are doing because I hear that porphyria tests can read false negative if done incorrectly. Do you have any suggestions? Thank you so much.

I am sorry to hear about your troubles, Savannah. From my research, I’ve come to the conclusion that false negatives are common; in fact, one of my children, with worse porphyria symptoms than mine, had a negative test. And, I don’t know if the false negatives are a function of techs inexperienced with porphyria or the markers are hard to detect.

I am blessed that when I was tested, it turned out positive. The test they gave me was the 24 hour urine test. This was done by Quest Diagnostics, 33608 Ortega Hwy, San Juan Capistrano, CA 92675-2042.

Before I heard about porphyria, the doctors ran many inconclusive tests.

Have you tried placing your urine in a glass jar & putting it in the sun? I haven’t had success with this test; but, I hear that many porphyria sufferers try this and the urine turns colors like red or purple. It is my suspicion that it works more with folks who have cutaneous types of porphyria…which sounds like you. Also, I wonder if that affect is reduced by the consumption of large amounts of water.

Sorry, I am not much help in regard to suggesting solutions to your test problem.

Yes I did this test with the sun. And though getting it confirmed via lab has been unattainable to do, (porph tests have to be conducted under specific conditions you only need one medic or person in the chain who may expose samples to daylight for instance) mine turns the colour of coca cola. When my doctor saw it he bought it totally. Though there maybe other odd conditions which can cause that given the symptomology of porphyrics and normally there past mysterious health issues the urine changing in the sun doctors would have a hard time to dismiss as anything else.

I just found this blog when looking for info on MSG and porphyria. Great stuff!

I know they’re doing DNA testing now go on the American porphyria Foundation website and there’s contact information or just type in APF DNA testing in your Google search I signed up although I have been tested through urine stool and blood and it sure is a IP and PCT but my doctors question herself with these results I think anything and she won’t respond to me Emergency Room give me treatment I kind of wish I didn’t get a diagnosis cuz the disease alone makes me crazy with light sometimes not violent or anything and my skin does all sorts of stuff to I have the abdominal pain throwing up for years and the only thing I get relief from is dextrose and hiding in the dark but I’m still terrified that the DNA testing is going to say no you don’t have that and then people are going to think I’m a liar because I do have test results saying I have AIP and PCT and a doctor’s letter saying I have porphyria just like it says eat carbs to help you feel feel better it works for me but if the DNA says no then where do I go from here

Hi Savannah,
I just came upon this blog and read your problem with testing. I just had my 2nd Porphyria blood test and it came back negative. Have you had any luck since you wrote your post in 2014? My symptoms are spot on for the cutaneous type of Porphyria and was wondering if a particular testing facility was better at diagnosing this disease.

The problem may be that they don’t consider it porphyria unless your prophyrins are 3 times the normal limit. That is absurd; why even have normal limits set where they are…the upper bound of normal should be 3x.

Hi again. I was just thinking about an odd encounter I had pre-diagnosis (still yet not absolutely confirmed) with dentistry. Just thought I’d share:
I had to get a front tooth crowned. The dentist kept promising a good match to the colour of my other teeth but the first three failed to match. I warned him that I had been told years before when having the tooth capped that my teeth were unusually “transparent”. So he sent me to the lab in person to get the fourth made. The lab tech there told me that it was very hard to match my teeth as they had an unusual purple hue that was seen in unusual medical conditions. I didn’t know enough to clue into the hint. I just laughed at the bizarre concept of purple teeth. Sadly, the crown was still a crappy match but there was nooooo way anyone was going to get me into a dentist’s chair again over it!! When my protoporphyrin came back elevated, I remembered the story.

Thank you so much for your great blog!
I have been diagnosed with VP 20 years ago. My late dad had it, and my son (15) has it.
I micro-manage my VP and besides battling with soldering porphyria every day, I’m one of the healthiest people I know.

This email is to let you know how great your work is, and I admire your time and energy spent. I would love to write a book on my VP journey one day, and not only inspire other patients, but also inspire normal folk to battle their personal demons.
I have to confess, reading blogs like yours, sure make me feel so humble!

I would love to pick your brain every now and then on specific subjects.

After 2 years of being almost completely bedridden, I started to take lead in getting myself sorted out. Doctors were a great sourcse of motivation once I have learnt that they truly know nothing about this disease.

It took me 2 years of pain, sweat, tears and determination to surround myself with a positive support group, (including educating selected medical professionals), and crawl my way out from a dark and painful place.

Today, I eat right, do weight training almost every day, got my neuropathy under control, got my depression and anxiety under control, is proud of how far I have come and do not mourn all that I had to sacrifice (career, hobbies, friends, running a NPO, the list goes on).

It is a full-time job to keep going!

Every now and then I work on little theories of my own to see where I can make my and my son’s VP life easier – this is where I tap into patient experience such of your own. I am very irritated at the moment with our local porphyria support network here in South Africa, and feel a burning need to set the records straight…… but the energy will always have to go into keeping my day a good day and secure I don’t wake up the next day in a hot mess, feeling that I got drunk, beaten up, and dumped by the love of my life at the same time.

As you can imagine, the process of getting adequate, informative and accurate information out to patients that is good enough to take to their medical care givers, is a slow and process, and every day I speak to patients that are mishandled and often insulted by doctors due to information given from the wrong perspectives.

I thank you again. And may I ask you if you are on any Facebook support sites for porphyria (I have not seen your name come up).

Hope you are in good health, and I’m looking forward to receive further blogging from you.

My wife had a brilliant suggestion…frame your post & hang it in my office, to provide me encouragement. I am very glad to hear that the blog has been of use to you.

Thank you for posting your story; this should be very encouraging to other sufferers of porphyria. I hope you do find a way to write a book; your story and positive outlook would probably be helpful to many people, in and out of the porphyria club.

Thanks for sharing! It helps. I am learning to keep a smaller circle of people around me, those who understand why I can be the very image of energetic good health one day, and unable to function properly the next. The rest simply get, “I’m sorry, not today” on my bad days. It is way too hard to explain to those outside of this inner circle. It is also way too hard to fake it for any length of time.
Zibbi

Is it possible to have constant pain and symptoms from porphyria…… all I read about is attacks….. which makes me think that there are periods of time with out the symptoms…. is that right? I am recently diagnosis/in the middle of being diagnosed , but I have pain all the time….. joint pain, abdominal pain, back pain….all over body pain….. all day, everyday. Some days are WAY worse then others but I never have a period of time over the last few years where I’m not in pain. Is there a way to get the symptoms to go away….with out needing pain meds?

Yes, Juliette; it is possible to have constant pain and symptoms. I used to have daily/constant attacks, until I got control of the triggers. When having constant attacks, it is very hard to identify what is triggering the attacks…it drove us nuts. I still have constant porphyria issues…low/intermittent energy, frequent discomfort, susceptibility to virus’, etc.

Every one is different & only doctors can cure you; but, what I do: During porphyric episodes, I chew on glucose tablets, drink water with magnesium (Calm & / or epsom salt), eat carbs, relax in a dark comfortable room. Sometimes, instead of the glucose tablets, I mix glucose power with water (cheaper than tablets).

The best thing that I have found is to avoid the attacks by identifying triggers (food or environmental), getting enough rest, getting enough exercise, avoiding stress, avoiding too much sun.

Hi I’m an administrator for a facebook page called PORPHYRIA – it’s an international site that is closed so the general public can’t look at it. But those that are members have so much experience to share – the good, the bad, the support, the venting…. Would you please take a look at the site and see if you would be so kind as to add it to your list. We are not doctors but people who have researched this beast and help people to unravel the mysteries as best we can. Also, please consider joining the group! You would find it helpful not only for yourself but for your blog too…. Thanks for doing so much for Porphyria. I’ve had it most of my life – HCP with sun issues… Blessings Shery

Just wanted to say that I appreciate your blog very much. I am a medical student currently learning about prophyria and wanted to get a more personal look on what it’s like to actually live with the disease (as opposed to just being a slide on a powerpoint). Thanks for being brave and sharing your struggles!

Hi, Brenda. No one has responded about using a genome service. I discussed it with my wife; but, since I already have a diagnosis, we decided against it. Using one of these services would have been just for academic curiosity; and, we did not like the idea of my DNA being in the hands of a commercial entity. Maybe we are being over-cautious. If someone posts a reply about genetic testing, I will approve it & give you a heads up.

Hi ,
I am an AIP PATIENT & though not really struggling with the attacks but I get these epilepsy like episodes which are increasing day by day & I have them @ night aswell .
Can one provide some help or prescribe some medication , apprentice I am on medication but it is not helping.
Natasha

hi natasha like you I have porpyria and I also have seizure like activity first of all if you drink any alcolhol even a tiny amount you can seize I have petite mal where I get a funny feeling in the pit of my stomach and start thinking I hear things out of synch and cant judge time ….and then sweat all over and get weak
if this happens in the moring i will have an attack later …I take gabapentin as much as it takes also take nap in dark all the way dark and stay away from flashing light

Hi, my name is alyssa kelly. I am 18 years old and I am being tested for porphyria. My grandfather, grandmother, great grandma, and uncle all have porphyria. I have spent the last 5 years of my life being treated for anxiety and arthritis. I have had countless trips to the ER and they would tell me its my anxiety. I wake up every morning with a headache and supper nauseous. I tend to get very light headed and i have severe muscle spasms. I have found that when I am cold it triggers the muscle spasms. I need some tips and tricks to help me live with porphyria.

I am sorry to hear about your troubles. Waking up feeling bad is very familiar to me.

Please realize that 2 very important things…1. I am not a doctor; by American law, they are they only people who can claim to know anything about medicine and the only ones that can cure people. 2. Each person with porphyria reacts differently to foods, drugs, and other triggers. So, it is up to each individual to manage their own health.

That said, the way that I keep porphyria at bay (in no significant order):
* high carb diet
* treat proteins and fats as necessary, but dangerous
* never go hungry – that means I eat before going to bed and keep a sandwich next to the bed
* if I feel porphyric – I eat and use glucose
* avoid chemicals
* keep a food log to figure out triggers and irritants to avoid
* keep an activities log to identify problem locations, activities, etc.
* choose soaps, shampoos, toothpaste, etc very carefully (see log activity above)
* prayer

I am very leery of doctors. They do not understand porphyria and are too quick to prescribe dangerous drugs. In fact, I cannot think of one thing that a doctor has suggested that helps with porphyria. Please be very careful around them. When I was young, they could not figure out why I was having terrible stomach aches…so, they told my parents that I was faking it. Seriously, sometimes the pain was bad enough that I would pass out.

Whether it is determined that you have porphyria or something else, I think that a food and activity log are very good ideas…for everyone.